MCID: XRD010
MIFTS: 55

Xeroderma Pigmentosum, Variant Type

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

MalaCards integrated aliases for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 54 50 29 13
Xeroderma Pigmentosum 12 72 23 50 24 25 29 13 52 42 14
Xpv 12 50 56 71
Xeroderma Pigmentosum with Normal Dna Repair Rates 12 50 71
Xeroderma Pigmentosum Variant Type 12 71 14
Xp 50 24 25
Photosensitivity with Defective Dna Synthesis 12 50
Desanctis-Cacchione Syndrome 24 25
Xeroderma Pigmentosa 50 24
De Sanctis-Cacchione Syndrome 69
Xeroderma Pigmentosum Variant 56

Characteristics:

Orphanet epidemiological data:

56
xeroderma pigmentosum variant
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
xeroderma pigmentosum, variant type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Variant Type

NIH Rare Diseases : 50 xeroderma pigmentosum (xp) is an inherited condition characterized by an extreme sensitivity to ultraviolet (uv) rays from sunlight. this condition mostly affects the eyes and areas of skin exposed to the sun. some affected individuals also have problems involving the nervous system. symptoms typically develop by the time a child is 2 years old. xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged dna. inherited mutations in at least nine genes have been identified. the condition is inherited in an autosomal recessive manner. people with xp need total protection from sunlight. this includes protective clothing, sunscreen, and dark sunglasses when out in the sun. to prevent skin cancer, medications like retinoid creams may be prescribed. skin cancers that do develop should be treated using standard practices. last updated: 6/24/2016

MalaCards based summary : Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, group b and de sanctis-cacchione syndrome, and has symptoms including basal cell carcinoma, photophobia and dry skin. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin and eye, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

UniProtKB/Swiss-Prot : 71 Xeroderma pigmentosum variant type: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.

Genetics Home Reference : 25 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

OMIM : 54
Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder, see XPA (278700). Some patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair (Lehman et al., 1975). This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation (Masutani et al., 1999). So-called 'pigmentary xerodermoid' is apparently identical to the XP variant, which is characterized by loss of a gene product that permits normal cells to replicate DNA without interruption at UV-damaged sites (Cleaver et al., 1980). (278750)

Disease Ontology : 12 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair.

Wikipedia : 72 Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA repair in which the... more...

GeneReviews: NBK1397

Related Diseases for Xeroderma Pigmentosum, Variant Type

Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9
Ddb2-Related Xeroderma Pigmentosum Ercc1-Related Xeroderma Pigmentosum
Ercc2-Related Xeroderma Pigmentosum Ercc3-Related Xeroderma Pigmentosum
Ercc4-Related Xeroderma Pigmentosum Ercc5-Related Xeroderma Pigmentosum
Polh-Related Xeroderma Pigmentosum Xpa-Related Xeroderma Pigmentosum
Xpc-Related Xeroderma Pigmentosum

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
id Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, group b 34.3 ERCC1 ERCC2 ERCC3 RAD23B XPA
2 de sanctis-cacchione syndrome 33.3 ERCC2 ERCC5
3 cerebrooculofacioskeletal syndrome 3 31.0 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
4 cerebrooculofacioskeletal syndrome 2 30.7 ERCC1 ERCC2 ERCC3 OGG1 RAD23B XPA
5 prostatitis 30.5 OGG1 TP53
6 xeroderma pigmentosum, group f 12.7
7 xeroderma pigmentosum, group g 12.7
8 xeroderma pigmentosum, group d 12.7
9 xeroderma pigmentosum, group c 12.7
10 xeroderma pigmentosum, group a 12.7
11 xeroderma pigmentosum group e 12.5
12 xeroderma pigmentosum, group e, ddb-negative subtype 12.3
13 xeroderma pigmentosum, type 9 12.0
14 ercc1-related xeroderma pigmentosum 12.0
15 polh-related xeroderma pigmentosum 12.0
16 xpa-related xeroderma pigmentosum 12.0
17 xpc-related xeroderma pigmentosum 12.0
18 xeroderma pigmentosum, type 2 12.0
19 ddb2-related xeroderma pigmentosum 12.0
20 ercc2-related xeroderma pigmentosum 12.0
21 ercc3-related xeroderma pigmentosum 12.0
22 ercc4-related xeroderma pigmentosum 12.0
23 ercc5-related xeroderma pigmentosum 12.0
24 chromosome xp deletion 11.9
25 cockayne syndrome, type a 11.6
26 cockayne syndrome, type b 11.2
27 cerebrooculofacioskeletal syndrome 4 11.0
28 basal cell carcinoma 1 11.0
29 cerebrooculofacioskeletal syndrome 1 11.0
30 cockayne syndrome 10.7
31 heavy chain disease 10.6 POLH TP53 XPA
32 diffuse mesangial sclerosis 10.6 ERCC1 ERCC2 XRCC3
33 fanconi anemia, complementation group q 10.6 ERCC1 ERCC4
34 stuttering 10.6 ERCC2 ERCC3 ERCC5
35 exostoses, multiple, type 2 10.5 DDB1 DDB2 XPC
36 eccrine papillary adenocarcinoma 10.5 ERCC1 TP53
37 mixed cerebral palsy 10.5 ERCC4 ERCC5 TP53
38 melanoma 10.5
39 subependymal giant cell astrocytoma 10.5 ERCC5 TP53
40 squamous cell carcinoma 10.5
41 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma 10.4 OGG1 TP53 XRCC1
42 basal cell carcinoma 10.4
43 autosomal genetic disease 10.4 ERCC2 ERCC3 XPA
44 non-distal trisomy 10q 10.3 TP53 XRCC1 XRCC3
45 lung cancer 10.3
46 animal phobia 10.3 TP53 XRCC1
47 ataxia 10.3
48 angiosarcoma 10.3
49 ceroid storage disease 10.2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
50 mental retardation, autosomal recessive 45 10.2 ERCC1 ERCC2 ERCC4 HPRT1

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to Xeroderma Pigmentosum, Variant Type

Symptoms & Phenotypes for Xeroderma Pigmentosum, Variant Type

Symptoms via clinical synopsis from OMIM:

54

Skin:
skin atrophy
keratoacanthomas
skin photosensitivity
early onset skin cancer (basal cell, squamous cell and malignant melanoma)
early freckle-like lesions in exposed areas
more
Misc:
no growth retardation, microcephaly, congenital malformations or other abnormalities

Eyes:
entropion
photophobia
conjunctivitis
ectropion
keratitis

Lab:
normal dna repair after ultraviolet radiation
defect in recovery of post-uv dna synthesis
damage


Clinical features from OMIM:

278750

Human phenotypes related to Xeroderma Pigmentosum, Variant Type:

56 32 (show top 50) (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 basal cell carcinoma 56 32 frequent (33%) Frequent (79-30%) HP:0002671
2 photophobia 56 32 frequent (33%) Frequent (79-30%) HP:0000613
3 dry skin 56 32 frequent (33%) Frequent (79-30%) HP:0000958
4 melanoma 56 32 frequent (33%) Frequent (79-30%) HP:0002861
5 squamous cell carcinoma 56 32 frequent (33%) Frequent (79-30%) HP:0002860
6 telangiectasia 56 32 frequent (33%) Frequent (79-30%) HP:0001009
7 poikiloderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001029
8 keratitis 56 32 frequent (33%) Frequent (79-30%) HP:0000491
9 freckles in sun-exposed areas 56 32 hallmark (90%) Very frequent (99-80%) HP:0007603
10 cutaneous photosensitivity 56 32 hallmark (90%) Very frequent (99-80%) HP:0000992
11 hypopigmentation of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0001010
12 dermal atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0004334
13 short stature 32 occasional (7.5%) HP:0004322
14 failure to thrive 32 hallmark (90%) HP:0001508
15 optic atrophy 32 hallmark (90%) HP:0000648
16 ataxia 32 occasional (7.5%) HP:0001251
17 strabismus 32 frequent (33%) HP:0000486
18 spasticity 32 occasional (7.5%) HP:0001257
19 cognitive impairment 32 hallmark (90%) HP:0100543
20 seizures 32 occasional (7.5%) HP:0001250
21 microcephaly 32 occasional (7.5%) HP:0000252
22 peripheral neuropathy 32 occasional (7.5%) HP:0009830
23 alopecia 32 occasional (7.5%) HP:0001596
24 entropion 32 occasional (7.5%) HP:0000621
25 fatigue 32 hallmark (90%) HP:0012378
26 aminoaciduria 32 occasional (7.5%) HP:0003355
27 cryptorchidism 32 frequent (33%) HP:0000028
28 thin skin 32 hallmark (90%) HP:0000963
29 cataract 32 frequent (33%) HP:0000518
30 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
31 hyperkeratosis 32 frequent (33%) HP:0000962
32 hypogonadism 32 hallmark (90%) HP:0000135
33 fever 32 hallmark (90%) HP:0001945
34 conjunctivitis 32 HP:0000509
35 freckling 32 hallmark (90%) HP:0001480
36 developmental regression 32 hallmark (90%) HP:0002376
37 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
38 sensorineural hearing impairment 32 frequent (33%) HP:0000407
39 ectropion 32 occasional (7.5%) HP:0000656
40 hypopigmented skin patches 32 frequent (33%) HP:0001053
41 cutaneous melanoma 32 HP:0012056
42 arthralgia 32 hallmark (90%) HP:0002829
43 erythema 32 frequent (33%) HP:0010783
44 blepharitis 32 occasional (7.5%) HP:0000498
45 conjunctival telangiectasia 32 hallmark (90%) HP:0000524
46 decreased testicular size 32 occasional (7.5%) HP:0008734
47 ankyloblepharon 32 occasional (7.5%) HP:0009755
48 craniofacial hyperostosis 32 occasional (7.5%) HP:0004493
49 pterygium 32 occasional (7.5%) HP:0001059
50 eeg abnormality 32 hallmark (90%) HP:0002353

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.89 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 DDB2 ERCC1 ERCC4 TP53 XRCC1 XRCC3
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 DDB2 ERCC1 ERCC4 TP53 XRCC1 XRCC3

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 ERCC3 ERCC4 HPRT1 OGG1 POLI RAD23B
2 growth/size/body region MP:0005378 10.35 DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
3 homeostasis/metabolism MP:0005376 10.25 CUL4A ERCC1 ERCC2 ERCC3 ERCC5 HPRT1
4 hematopoietic system MP:0005397 10.2 CUL4A ERCC1 ERCC2 ERCC5 HPRT1 OGG1
5 mortality/aging MP:0010768 10.19 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
6 immune system MP:0005387 10.18 CUL4A ERCC1 ERCC2 ERCC5 HPRT1 OGG1
7 integument MP:0010771 10.11 DDB2 ERCC1 ERCC2 ERCC3 ERCC5 HPRT1
8 craniofacial MP:0005382 10.04 RAD23B TP53 XPA CETN2 ERCC3 HPRT1
9 neoplasm MP:0002006 9.97 CUL4A DDB2 ERCC1 ERCC2 ERCC3 HPRT1
10 liver/biliary system MP:0005370 9.92 CUL4A ERCC1 ERCC4 ERCC5 HPRT1 OGG1
11 pigmentation MP:0001186 9.35 ERCC2 HPRT1 POLH TP53 XPA
12 vision/eye MP:0005391 9.28 CETN2 DDB1 ERCC2 ERCC3 HPRT1 RAD23B

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Variant Type

Cochrane evidence based reviews: xeroderma pigmentosum

Genetic Tests for Xeroderma Pigmentosum, Variant Type

Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type 29
2 Xeroderma Pigmentosum 29 24 XPC

Anatomical Context for Xeroderma Pigmentosum, Variant Type

MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

39
Skin, Eye

Publications for Xeroderma Pigmentosum, Variant Type

Articles related to Xeroderma Pigmentosum, Variant Type:

id Title Authors Year
1
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. ( 23630442 )
2013
2
Three school-age cases of xeroderma pigmentosum variant type. ( 23651273 )
2013
3
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. ( 18703314 )
2008
4
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. ( 17344931 )
2007

Variations for Xeroderma Pigmentosum, Variant Type

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

71
id Symbol AA change Variation ID SNP ID
1 POLH p.Arg111His VAR_021227 rs758423288
2 POLH p.Thr122Pro VAR_021228
3 POLH p.Gly263Val VAR_021230
4 POLH p.Arg361Ser VAR_021232
5 POLH p.Lys535Glu VAR_021234 rs56307355
6 POLH p.Lys589Thr VAR_021236 rs121908565
7 POLH p.Arg93Pro VAR_070836 rs756931657
8 POLH p.Val266Asp VAR_070837
9 POLH p.Gly295Arg VAR_070838
10 POLH p.Thr692Ala VAR_070839 rs199562456

ClinVar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 POLH POLH, 2-BP DEL, NT770 deletion Pathogenic
2 POLH POLH, 13-BP DEL, NT343 deletion Pathogenic
3 POLH POLH, 4-BP DEL, NT289 deletion Pathogenic
4 POLH NM_006502.2(POLH): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs121908562 GRCh37 Chromosome 6, 43572383: 43572383
5 POLH POLH, DEL AND TRP297TER deletion Pathogenic
6 POLH NM_006502.2(POLH): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic rs121908563 GRCh37 Chromosome 6, 43555112: 43555112
7 POLH NM_006502.2(POLH): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs121908564 GRCh37 Chromosome 6, 43578333: 43578333
8 POLH POLH, 104-BP DEL, NT661 deletion Pathogenic
9 POLH POLH, 1-BP DEL, 207G deletion Pathogenic
10 POLH POLH, 3-BP DEL, NT222 deletion Pathogenic
11 POLH NM_006502.2(POLH): c.1603A> G (p.Lys535Glu) single nucleotide variant Pathogenic/Likely pathogenic rs56307355 GRCh37 Chromosome 6, 43581755: 43581755
12 POLH NM_006502.2(POLH): c.1766A> C (p.Lys589Thr) single nucleotide variant Pathogenic rs121908565 GRCh37 Chromosome 6, 43581918: 43581918
13 POLH NM_006502.2(POLH): c.764+1G> A single nucleotide variant Pathogenic rs772570523 GRCh38 Chromosome 6, 43601092: 43601092
14 POLH NM_006502.2(POLH): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic rs759607901 GRCh38 Chromosome 6, 43604637: 43604637
15 POLH NM_006502.2(POLH): c.490G> T (p.Glu164Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767433001 GRCh37 Chromosome 6, 43555226: 43555226
16 POLH NM_006502.2(POLH): c.725C> G (p.Ser242Ter) single nucleotide variant Pathogenic rs745778317 GRCh37 Chromosome 6, 43568789: 43568789
17 POLH NM_006502.2(POLH): c.1661delA (p.Asn555Thrfs) deletion Pathogenic rs886039225 GRCh37 Chromosome 6, 43581813: 43581813
18 POLH NM_006502.2(POLH): c.1075-?_1244+?del deletion Pathogenic GRCh38 Chromosome 6, 43607987: 43611911
19 ERCC2 NM_000400.3(ERCC2): c.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh38 Chromosome 19, 45352801: 45352801

Expression for Xeroderma Pigmentosum, Variant Type

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for Xeroderma Pigmentosum, Variant Type

Pathways related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
2
Show member pathways
12.84 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
3
Show member pathways
12.67 CUL4A DDB1 OGG1 RPA2 XRCC1
4
Show member pathways
12.58 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 OGG1
5 12.23 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
6
Show member pathways
12.19 ERCC1 ERCC4 POLH RPA2 XRCC3
7
Show member pathways
12.16 CUL4A DDB1 POLH POLI RPA2
8 11.94 DDB2 ERCC5 TP53 XPC
9 11.91 ERCC2 ERCC3 TP53 XPA XPC
10 11.78 ERCC1 ERCC4 POLH POLI RPA2
11 11.62 ERCC1 POLH TP53 XPA
12
Show member pathways
11.5 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
13 11.31 ERCC1 ERCC2 ERCC3 ERCC4 POLH XPA

GO Terms for Xeroderma Pigmentosum, Variant Type

Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.65 CUL4A DDB1 DDB2
2 DNA replication factor A complex GO:0005662 9.63 ERCC5 RPA2 XPA
3 nuclear chromosome, telomeric region GO:0000784 9.63 DDB1 ERCC1 ERCC4 RPA2 XRCC1 XRCC3
4 holo TFIIH complex GO:0005675 9.61 ERCC2 ERCC3 ERCC5
5 nucleoplasm GO:0005654 9.6 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
6 replication fork GO:0005657 9.55 TP53 XRCC3
7 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.54 CUL4A DDB1
8 ERCC4-ERCC1 complex GO:0070522 9.54 ERCC1 ERCC4 XRCC1
9 core TFIIH complex GO:0000439 9.52 ERCC2 ERCC3
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.51 DDB1 DDB2
11 nucleotide-excision repair factor 1 complex GO:0000110 9.5 ERCC1 ERCC4 XPA
12 nucleotide-excision repair complex GO:0000109 9.49 ERCC1 ERCC4
13 XPC complex GO:0071942 9.43 CETN2 RAD23B XPC
14 transcription factor TFIID complex GO:0005669 9.35 ERCC1 ERCC2 ERCC3 ERCC4 TP53
15 nucleus GO:0005634 10.36 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 43)
id Name GO ID Score Top Affiliating Genes
1 base-excision repair GO:0006284 9.97 OGG1 RPA2 TP53 XPA XRCC1
2 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.96 CUL4A DDB1 RAD23B TP53
3 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.96 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
4 UV-damage excision repair GO:0070914 9.93 DDB1 DDB2 ERCC1 XPA XPC
5 double-strand break repair via homologous recombination GO:0000724 9.91 ERCC4 RPA2 XRCC1 XRCC3
6 interstrand cross-link repair GO:0036297 9.91 ERCC1 ERCC4 RPA2 XRCC3
7 embryonic organ development GO:0048568 9.89 ERCC1 ERCC2 ERCC3 RAD23B
8 DNA recombination GO:0006310 9.86 ERCC1 RPA2 XRCC3
9 multicellular organism growth GO:0035264 9.86 ERCC1 ERCC2 XPA
10 regulation of mitotic cell cycle phase transition GO:1901990 9.86 DDB1 ERCC2 ERCC3 XPC
11 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.85 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
12 double-strand break repair via nonhomologous end joining GO:0006303 9.82 ERCC1 ERCC4 XRCC1
13 DNA damage response, detection of DNA damage GO:0042769 9.8 CUL4A DDB1 RPA2
14 translesion synthesis GO:0019985 9.8 POLH POLI RPA2
15 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.76 ERCC1 ERCC4 XRCC1
16 telomeric DNA-containing double minutes formation GO:0061819 9.75 ERCC1 ERCC4 XRCC1
17 error-prone translesion synthesis GO:0042276 9.69 POLI RPA2
18 error-free translesion synthesis GO:0070987 9.69 POLH RPA2
19 t-circle formation GO:0090656 9.68 ERCC1 XRCC3
20 response to auditory stimulus GO:0010996 9.68 XPA XPC
21 histone H2A monoubiquitination GO:0035518 9.67 DDB1 DDB2
22 negative regulation of telomerase activity GO:0051974 9.67 ERCC4 TP53
23 response to UV-C GO:0010225 9.67 ERCC5 POLH
24 mitotic G1 DNA damage checkpoint GO:0031571 9.66 RPA2 TP53
25 regulation of DNA damage checkpoint GO:2000001 9.65 CUL4A RPA2
26 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.65 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
27 hair cell differentiation GO:0035315 9.64 ERCC2 ERCC3
28 pyrimidine dimer repair GO:0006290 9.64 DDB2 POLH
29 negative regulation of telomere maintenance GO:0032205 9.63 ERCC1 ERCC4
30 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.62 ERCC4 XPA
31 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.28 CETN2 CUL4A DDB1 DDB2 ERCC2 ERCC3
32 cellular response to DNA damage stimulus GO:0006974 10.47 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
33 DNA repair GO:0006281 10.43 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
34 nucleotide-excision repair GO:0006289 10.3 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
35 global genome nucleotide-excision repair GO:0070911 10.17 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
36 nucleotide-excision repair, DNA incision GO:0033683 10.14 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
37 nucleotide-excision repair, preincision complex assembly GO:0006294 10.11 CETN2 CUL4A DDB1 DDB2 ERCC2 ERCC3
38 viral process GO:0016032 10.05 CUL4A DDB1 ERCC2 ERCC3 TP53
39 nucleotide-excision repair, DNA damage recognition GO:0000715 10.05 CETN2 CUL4A DDB1 DDB2 RAD23B XPA
40 response to UV GO:0009411 10.02 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 XPA
41 transcription-coupled nucleotide-excision repair GO:0006283 10.02 CUL4A DDB1 ERCC1 ERCC2 ERCC3 ERCC4
42 response to oxidative stress GO:0006979 10 ERCC1 ERCC2 ERCC3 OGG1 XPA
43 UV protection GO:0009650 10 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 XPA

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.78 ERCC1 ERCC2 ERCC3 ERCC4
2 protein N-terminus binding GO:0047485 9.73 ERCC2 ERCC3 ERCC4 ERCC5 RPA2 TP53
3 endonuclease activity GO:0004519 9.71 ERCC1 ERCC4 ERCC5 OGG1
4 nuclease activity GO:0004518 9.7 ERCC1 ERCC4 ERCC5
5 DNA-dependent ATPase activity GO:0008094 9.61 ERCC2 ERCC3 XRCC3
6 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.51 ERCC2 ERCC3
7 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.5 ERCC1 ERCC4 XRCC1
8 single-stranded DNA binding GO:0003697 9.5 ERCC1 ERCC4 ERCC5 RAD23B RPA2 XPC
9 TFIID-class transcription factor binding GO:0001094 9.49 ERCC1 ERCC4
10 damaged DNA binding GO:0003684 9.47 DDB1 DDB2 ERCC1 ERCC3 ERCC4 OGG1
11 bubble DNA binding GO:0000405 9.46 ERCC5 XPC
12 protein binding GO:0005515 10.37 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
13 DNA binding GO:0003677 10.03 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4

Sources for Xeroderma Pigmentosum, Variant Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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